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OXCT1 3-oxoacid CoA-transferase 1 [ Homo sapiens (human) ]

Gene ID: 5019, updated on 22-Aug-2021

Summary

Official Symbol
OXCT1provided by HGNC
Official Full Name
3-oxoacid CoA-transferase 1provided by HGNC
Primary source
HGNC:HGNC:8527
See related
Ensembl:ENSG00000083720 MIM:601424
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OXCT; SCOT
Summary
This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
Expression
Broad expression in heart (RPKM 90.1), brain (RPKM 37.8) and 19 other tissues See more
Orthologs
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Genomic context

See OXCT1 in Genome Data Viewer
Location:
5p13.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (41730065..41870535, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (41730167..41870527, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 3 Neighboring gene uncharacterized LOC105374740 Neighboring gene t-complex 1 pseudogene 2 Neighboring gene uncharacterized LOC102723752 Neighboring gene OXCT1 antisense RNA 1 Neighboring gene zinc finger protein 626 pseudogene Neighboring gene ribosomal protein S2 pseudogene 22 Neighboring gene RAB7A interacting MON1-CCZ1 complex subunit 1 Neighboring gene F-box protein 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that OXCT1 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with OXCT1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-oxoacid CoA-transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 3-oxoacid CoA-transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables CoA-transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular ketone body metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular ketone body metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in ketone body catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in ketone catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to activity IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
 
involved_in response to starvation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
Names
3-oxoacid CoA transferase
SCOT-s
epididymis secretory sperm binding protein
somatic-type succinyl-CoA:3-oxoacid CoA-transferase
succinyl CoA:3-oxoacid CoA transferase
succinyl-CoA:3-ketoacid-CoA transferase
NP_000427.1
NP_001351228.1
NP_001351229.1
NP_001351230.1
NP_001351231.1
NP_001351232.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011823.1 RefSeqGene

    Range
    5001..145625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000436.4NP_000427.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_000427.1

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    Consensus CDS
    CCDS3937.1
    UniProtKB/Swiss-Prot
    P55809
    UniProtKB/TrEMBL
    A0A024R040
    Related
    ENSP00000196371.5, ENST00000196371.10
    Conserved Domains (2) summary
    COG1788
    Location:41274
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:300508
    SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
  2. NM_001364299.2NP_001351228.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    Conserved Domains (2) summary
    COG1788
    Location:41281
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:307515
    SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...
  3. NM_001364300.2NP_001351229.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    Conserved Domains (2) summary
    COG1788
    Location:48281
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:307515
    SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...
  4. NM_001364301.2NP_001351230.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    Conserved Domains (2) summary
    COG1788
    Location:41272
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:298506
    SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...
  5. NM_001364302.2NP_001351231.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    Conserved Domains (2) summary
    COG1788
    Location:41274
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:300478
    SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
  6. NM_001364303.2NP_001351232.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    Related
    ENSP00000425348.1, ENST00000509987.1
    Conserved Domains (2) summary
    COG1788
    Location:388
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:114322
    SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

RNA

  1. NR_157114.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    41730065..41870535 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001742081.2 RNA Sequence

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